Results 81 to 90 of about 2,937,536 (254)

Pediatric Liver Transplantation: Then and Now [PDF]

, 2020
This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT, Carullo, PC, Davis, PJ, Tran, LT, Vitu, C   +4 more
core   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 more
doaj   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Indications for pediatric liver transplantation [PDF]

, 1987
Two hundred fifty pediatric (
Andreas G. Tzakis, Baburao Koneru, Carlos O. Esquivel, Esquivel, Esquivel, Gordon, Iwatsuki, Leonard Makowka, National Institutes of Health Consensus Development Conference Statement, Robert D. Gordon, Satoru Todo, Shaw, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Tzakis, Urbach, Wallis W. Marsh   +21 more
core   +1 more source

Inborn errors of immunity with eosinophilia

Allergology International, 2021
Monogenic diseases of the immune system, also known as inborn errors of immunity (IEIs), are caused by single-gene mutations and result in immune deficiency and dysregulation. More than 400 monogenic diseases have been described to date, and this number is rapidly expanding.
Keisuke Okamoto, Tomohiro Morio
openaire   +4 more sources

Regulation 61-80 neonatal screening for inborn metabolic errors and hemoglobinopathies [PDF]

, 2021
This regulation establishes rules implementing provisions of Section 44-37-30 of the South Carolina Code of Laws, 1976, as amended, regarding testing of newborn children for inborn metabolic errors and hemoglobinopathies.
South Carolina Department of Health and Environmental Control
core  

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +1 more source

Gene therapy for inborn errors of liver metabolism: progress towards clinical applications [PDF]

, 2008
The treatment for inborn errors of liver metabolism is based on dietary, drug, and cell therapies (orthotopic liver transplantation). However, significant morbidity and mortality still remain, and alternative strategies are needed.
Brunetti-Pierri, Nicola
core   +3 more sources

Carnitine Inborn Errors of Metabolism [PDF]

Molecules, 2019
Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai, Majid Alfadhel, Ayman W. El-Hattab   +2 more
openaire   +3 more sources

Topological dissipative Kerr soliton combs in a valley photonic crystal resonator [PDF]

arXiv, 2023
Topological phases have become an enabling role in exploiting new applications of nonlinear optics in recent years. Here we theoretically propose a valley photonic crystal resonator emulating topologically protected dissipative Kerr soliton combs. It is shown that topological resonator modes can be observed in the resonator.
arxiv